Resistencia generalizada a hormonas tiroideas de carácter familiar

hyroid hormone resistance is a rare autosomal dominant disease associated, in more than 90% of cases, to mutations in the beta thyroid hormone receptor. We report a 23 years old male that consulted for a psychiatric condition. Clinically, the patient was euthyroid in spite of high total and free T4...

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Autores principales:	López M,José M, Jiménez M,Marcela, Campino J,Carmen
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2004
Materias:	Receptors thyroid hormone Thyroid hormones Thyroid hormone resistance Thyronines Thyroxine
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000900011
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spelling	oai:scielo:S0034-988720040009000112005-11-22Resistencia generalizada a hormonas tiroideas de carácter familiarLópez M,José MJiménez M,MarcelaCampino J,Carmen Receptors thyroid hormone Thyroid hormones Thyroid hormone resistance Thyronines Thyroxine hyroid hormone resistance is a rare autosomal dominant disease associated, in more than 90% of cases, to mutations in the beta thyroid hormone receptor. We report a 23 years old male that consulted for a psychiatric condition. Clinically, the patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH remained normal. Also, TSH showed a five fold increase under TRH stimulation. The mother and one of his brothers had the same pattern of abnormal serum thyroid hormones. We discuss the diagnostic considerations and the protocol to study this rare pathology (Rev Méd Chile 2004; 132: 1096-9)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.9 20042004-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000900011es10.4067/S0034-98872004000900011
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Receptors thyroid hormone Thyroid hormones Thyroid hormone resistance Thyronines Thyroxine
spellingShingle	Receptors thyroid hormone Thyroid hormones Thyroid hormone resistance Thyronines Thyroxine López M,José M Jiménez M,Marcela Campino J,Carmen Resistencia generalizada a hormonas tiroideas de carácter familiar
description	hyroid hormone resistance is a rare autosomal dominant disease associated, in more than 90% of cases, to mutations in the beta thyroid hormone receptor. We report a 23 years old male that consulted for a psychiatric condition. Clinically, the patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH remained normal. Also, TSH showed a five fold increase under TRH stimulation. The mother and one of his brothers had the same pattern of abnormal serum thyroid hormones. We discuss the diagnostic considerations and the protocol to study this rare pathology (Rev Méd Chile 2004; 132: 1096-9)
author	López M,José M Jiménez M,Marcela Campino J,Carmen
author_facet	López M,José M Jiménez M,Marcela Campino J,Carmen
author_sort	López M,José M
title	Resistencia generalizada a hormonas tiroideas de carácter familiar
title_short	Resistencia generalizada a hormonas tiroideas de carácter familiar
title_full	Resistencia generalizada a hormonas tiroideas de carácter familiar
title_fullStr	Resistencia generalizada a hormonas tiroideas de carácter familiar
title_full_unstemmed	Resistencia generalizada a hormonas tiroideas de carácter familiar
title_sort	resistencia generalizada a hormonas tiroideas de carácter familiar
publisher	Sociedad Médica de Santiago
publishDate	2004
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000900011
work_keys_str_mv	AT lopezmjosem resistenciageneralizadaahormonastiroideasdecaracterfamiliar AT jimenezmmarcela resistenciageneralizadaahormonastiroideasdecaracterfamiliar AT campinojcarmen resistenciageneralizadaahormonastiroideasdecaracterfamiliar
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Resistencia generalizada a hormonas tiroideas de carácter familiar

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